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Items: 1 to 20 of 25

1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
AbstractArticlePDF–34M
2.
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee
Mol Genet Genomic Med. 2023 Jun; 11(6): e2160. Published online 2023 Feb 27. doi: 10.1002/mgg3.2160
PMCID:
PMC10364928
AbstractArticlePDF–462K
3.
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
Célia Azevedo Soares, Natália Tkachenko, Emídio Vale Fernandes, Márcia Barreiro, Maria Abreu, Cláudia Falcão Reis, Gabriela Soares, Ana Maria Fortuna, Ana Rita Soares
JBRA Assist Reprod. 2023 Apr-Jun; 27(2): 180–184. doi: 10.5935/1518-0557.20220012
PMCID:
PMC10279443
AbstractArticlePDF–1.3M
4.
Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
Daniel G. Calame, Isabella Herman, Aren E. Marshall, Reza Maroofian, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sergio Sousa, Somayeh Bakhtiari, Yoko A. Ito, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa T. Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W. Saadi, Maha S. Zaki, David L. Skidmore, Matthew Osmond, Thiago Oliveira Silva, Henry Houlden, David Murphy, Ehsan Ghayoorarimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas A. Morales Saute, Adeline Vanderver, Davut Pehlivan, Dana Marafi, James R. Lupski
Ann Neurol. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Ann Neurol. 2022 Aug; 92(2): 304–321. Published online 2022 May 28. doi: 10.1002/ana.26381
PMCID:
PMC10054521
AbstractArticlePDF–2.7M
5.
Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria
Pegah Namdar Aligoodarzi, Golale Rostami, Seyed Reza Kazemi Nezhad, Mohammad Hamid
Iran Biomed J. 2023 Jan; 27(1): 46–57. Published online 2022 Dec 21. doi: 10.52547/ibj.3856
PMCID:
PMC9971712
AbstractArticlePDF–839K
6.
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report
Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta
BMC Neurol. 2022; 22: 193. Published online 2022 May 25. doi: 10.1186/s12883-022-02711-4
PMCID:
PMC9131546
AbstractArticlePDF–1.3M
7.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N. Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D. Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M. Nouel-Saied, Diana M. Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E. Posey, Suzanne M. Leal, Isabelle Schrauwen
Hum Genet. 2021; 140(7): 1011–1029. Published online 2021 Mar 12. doi: 10.1007/s00439-021-02268-1
PMCID:
PMC8197721
AbstractArticlePDF–697K
8.
Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
Chuan Li, Qi Yan, Feng-ju Duan, Chao Zhao, Zhuo Zhang, Ying Du, Wei Zhang
BMC Neurol. 2021; 21: 12. Published online 2021 Jan 11. doi: 10.1186/s12883-020-02040-4
PMCID:
PMC7798194
AbstractArticlePDF–3.0M
9.
DEGS1 variant causes neurological disorder
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, Izolda Mileva, Yuval Yogev, Raed Khoury, Osnat Konen, Yael Barhum, Alex Zvulunov, Cungui Mao, Ohad S. Birk
Eur J Hum Genet. 2019 Nov; 27(11): 1668–1676. Published online 2019 Jun 11. doi: 10.1038/s41431-019-0444-z
PMCID:
PMC6871177
AbstractArticlePDF–1.9M
10.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
Muhammad Ansar, Hyung-lok Chung, Ali Al-Otaibi, Mohammad Nael Elagabani, Thomas A. Ravenscroft, Sohail A. Paracha, Ralf Scholz, Tayseer Abdel Magid, Muhammad T. Sarwar, Sayyed Fahim Shah, Azhar Ali Qaisar, Periklis Makrythanasis, Paul C. Marcogliese, Erik-Jan Kamsteeg, Emilie Falconnet, Emmanuelle Ranza, Federico A. Santoni, Hesham Aldhalaan, Ali Al-Asmari, Eissa Ali Faqeih, Jawad Ahmed, Hans-Christian Kornau, Hugo J. Bellen, Stylianos E. Antonarakis
Am J Hum Genet. 2019 Nov 7; 105(5): 907–920. Published online 2019 Oct 10. doi: 10.1016/j.ajhg.2019.09.013
PMCID:
PMC6848997
AbstractArticlePDF–2.2M
11.
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs
Mario Van Poucke, Kimberley Stee, Laurien Sonck, Emmelie Stock, Leslie Bosseler, Jo Van Dorpe, Filip Van Nieuwerburgh, Dieter Deforce, Luc J. Peelman, Luc Van Ham, Sofie F. M. Bhatti, Bart J. G. Broeckx
Eur J Hum Genet. 2019 Oct; 27(10): 1561–1568. Published online 2019 Jun 3. doi: 10.1038/s41431-019-0432-3
PMCID:
PMC6777613
AbstractArticlePDF–964K
12.
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G. Monaghan, Amber Begtrup, Ashley Wilson, Kyle Retterer, Kwame Anyane-Yeboa, Wendy K. Chung
Eur J Hum Genet. 2019 Jul; 27(7): 1081–1089. Published online 2019 Feb 18. doi: 10.1038/s41431-019-0366-9
PMCID:
PMC6777464
AbstractArticlePDF–1.1M
13.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Muhammad Ansar, Farid Ullah, Sohail A. Paracha, Darius J. Adams, Abbe Lai, Lynn Pais, Justyna Iwaszkiewicz, Francisca Millan, Muhammad T. Sarwar, Zehra Agha, Sayyed Fahim Shah, Azhar Ali Qaisar, Emilie Falconnet, Vincent Zoete, Emmanuelle Ranza, Periklis Makrythanasis, Federico A. Santoni, Jawad Ahmed, Nicholas Katsanis, Christopher Walsh, Erica E. Davis, Stylianos E. Antonarakis
Am J Hum Genet. 2019 Jun 6; 104(6): 1073–1087. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.04.002
PMCID:
PMC6556908
AbstractArticlePDF–1.7M
14.
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani
Ann Saudi Med. 2015 Mar-Apr; 35(2): 170–172. doi: 10.5144/0256-4947.2015.170
PMCID:
PMC6074128
AbstractArticlePDF–836K
15.
A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations
Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault
Hum Mol Genet. 2018 Jun 15; 27(12): 2138–2153. Published online 2018 Apr 5. doi: 10.1093/hmg/ddy122
PMCID:
PMC5985730
AbstractArticlePDF–1.5M
16.
Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy
Yangfan P. Liu, Daniëlle G.M. Bosch, Anna M. Siemiatkowska, Nanna Dahl Rendtorff, F. Nienke Boonstra, Claes Möller, Lisbeth Tranebjærg, Nicholas Katsanis, Frans P.M. Cremers
Ophthalmic Genet. Author manuscript; available in PMC 2018 May 24.
Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 127–132. Published online 2016 Mar 30. doi: 10.3109/13816810.2016.1151898
PMCID:
PMC5967407
AbstractArticlePDF–559K
17.
Animal and cellular models of familial dysautonomia
Frances Lefcort, Marc Mergy, Sarah B. Ohlen, Yumi Ueki, Lynn George
Clin Auton Res. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Clin Auton Res. 2017 Aug; 27(4): 235–243. Published online 2017 Jun 30. doi: 10.1007/s10286-017-0438-2
Correction in:
Clin Auton Res. 2017 Aug; 27(4): 293.
PMCID:
PMC5722227
AbstractArticlePDF–327K
18.
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman, Jeremy Schwartzentruber, Jacek Majewski, FORGE Canada Consortium, Cheryl Rockman-Greenberg
BMC Med Genet. 2015; 16: 28. Published online 2015 Apr 30. doi: 10.1186/s12881-015-0175-0
PMCID:
PMC4630843
AbstractArticlePDF–855K
19.
A nationwide survey on Marinesco-Sjögren syndrome in Japan
Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi
Orphanet J Rare Dis. 2014; 9: 58. Published online 2014 Apr 23. doi: 10.1186/1750-1172-9-58
PMCID:
PMC4021608
AbstractArticlePDF–397K
20.
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher, André Reis
Eur J Hum Genet. 2011 Nov; 19(11): 1161–1166. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.98
PMCID:
PMC3198153
AbstractArticlePDF–414K

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